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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA120295302
Gene: NT5ELP
HGNC
NCBI
Linked Data
dbSNP Id:
rs1057276037
MyVariant Identifiers:
chr5:g.63742233_63742234insA (hg19)
chr5:g.64446406_64446407insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.64446412dup , CM000667.2:g.64446412dup
GRCh38
NC_000005.9:g.63742239dup , CM000667.1:g.63742239dup
GRCh37
NC_000005.8:g.63777995dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000438016.2:n.222+4264dup
Search 100 bp 5'
Search 100 bp 3'